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"ENSP00000496237.1:p.Leu91_Leu451delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" 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"ENSP00000495311.1:p.Leu91_Gln370delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProGluGluGlnMetLysArgProPheIleGlnValPheGlnAsnLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767056" }, { "coordinates": [ { "allele": "G", "end": 319, "referenceAllele": "T", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643128.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000496678.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000496678.1:p.Leu91_Gln418delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767106" }, { "coordinates": [ { "allele": "G", "end": 349, "referenceAllele": "T", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643193.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000496559.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000496559.1:p.Leu91_Phe458delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767145" }, { "coordinates": [ { "allele": "G", "end": 159, "endIntronDirection": "-", "endIntronOffset": 4922, "referenceAllele": "T", "start": 159, "startIntronDirection": "-", "startIntronOffset": 4923 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643206.1:c.110-4923T>G" ], "proteinEffect": { "hgvs": "ENSP00000496172.1:n.110-4923T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767151" }, { "coordinates": [ { "allele": "G", "end": 447, "referenceAllele": "T", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643272.1:c.380T>G" ], "proteinEffect": { "hgvs": "ENSP00000494488.1:p.Leu127Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767189" }, { "coordinates": [ { "allele": "G", "end": 1576, "referenceAllele": "T", "start": 1575 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643358.1:n.1576T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767240" }, { "coordinates": [ { "allele": "G", "end": 134, "referenceAllele": "T", "start": 133 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643368.1:n.134T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767244" }, { "coordinates": [ { "allele": "G", "end": 516, "referenceAllele": "T", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643605.1:c.*259T>G" ], "proteinEffect": { "hgvs": "ENSP00000496480.1:n.*259T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767370" }, { "coordinates": [ { "allele": "G", "end": 327, "referenceAllele": "T", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643610.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000494350.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000494350.1:p.Leu91_Ser454delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAspGlyValSerProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767374" }, { "coordinates": [ { "allele": "G", "end": 340, "referenceAllele": "T", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643714.1:n.340T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767431" }, { "coordinates": [ { "allele": "G", "end": 371, "referenceAllele": "T", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000643903.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000495165.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000495165.1:p.Leu91_Gln409delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767533" }, { "coordinates": [ { "allele": "G", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644087.1:c.*202T>G" ], "proteinEffect": { "hgvs": "ENSP00000495249.1:n.*202T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767625" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "T", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644116.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000495276.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000495276.1:p.Leu91_Leu476delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767642" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "T", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644122.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000495236.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000495236.1:p.Leu91_Ile482delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767645" }, { "coordinates": [ { "allele": "G", "end": 254, "referenceAllele": "T", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644201.1:c.254T>G" ], "proteinEffect": { "hgvs": "ENSP00000495044.1:p.Leu85Ter", "hgvsWellDefined": "ENSP00000495044.1:p.Leu85_Asn173delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAlaPheMetSerTrpLeuValGlnMetSerArgPheLeuLeuValTyrGluLysLeuLysIleHisArgIleAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767694" }, { "coordinates": [ { "allele": "G", "end": 384, "referenceAllele": "T", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644375.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000494315.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000494315.1:p.Leu91_Leu473delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluCysHisLeuGlnLeuGlnSerLeuProGluAlaLeuSerSerHisCysProGluLysGluTyrPheIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767787" }, { "coordinates": [ { "allele": "G", "end": 360, "referenceAllele": "T", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644551.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000493981.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000493981.1:p.Leu91_Pro464delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767877" }, { "coordinates": [ { "allele": "G", "end": 334, "referenceAllele": "T", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644609.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000496045.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000496045.1:p.Leu91_Leu450delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767899" }, { "coordinates": [ { "allele": "G", "end": 299, "referenceAllele": "T", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644639.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000496391.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000496391.1:p.Leu91_Leu161delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGlyValTyrArgTyrGlnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767913" }, { "coordinates": [ { "allele": "G", "end": 173, "referenceAllele": "T", "start": 172 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644674.1:n.173T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767930" }, { "coordinates": [ { "allele": "G", "end": 444, "referenceAllele": "T", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644681.1:c.-2T>G" ], "proteinEffect": { "hgvs": "ENSP00000496455.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767936" }, { "coordinates": [ { "allele": "G", "end": 225, "referenceAllele": "T", "start": 224 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644682.1:c.225T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767937" }, { "coordinates": [ { "allele": "G", "end": 381, "referenceAllele": "T", "start": 380 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644816.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000494898.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000494898.1:p.Leu91_Leu460delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768014" }, { "coordinates": [ { "allele": "G", "end": 173, "endIntronDirection": "+", "endIntronOffset": 1399, "referenceAllele": "T", "start": 173, "startIntronDirection": "+", "startIntronOffset": 1398 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000644924.1:n.173+1399T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768078" }, { "coordinates": [ { "allele": "G", "end": 428, "referenceAllele": "T", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645101.1:c.380T>G" ], "proteinEffect": { "hgvs": "ENSP00000494975.1:p.Leu127Ter", "hgvsWellDefined": "ENSP00000494975.1:p.Leu127_Pro491delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768173" }, { "coordinates": [ { "allele": "G", "end": 418, "referenceAllele": "T", "start": 417 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645109.1:c.380T>G" ], "proteinEffect": { "hgvs": "ENSP00000495931.1:p.Leu127Ter", "hgvsWellDefined": "ENSP00000495931.1:p.Leu127_Gln454delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768178" }, { "coordinates": [ { "allele": "G", "end": 152, "referenceAllele": "T", "start": 151 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645262.1:c.149T>G" ], "proteinEffect": { "hgvs": "ENSP00000494164.1:p.Leu50Ter", "hgvsWellDefined": "ENSP00000494164.1:p.Leu50_Leu410delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768254" }, { "coordinates": [ { "allele": "G", "end": 326, "referenceAllele": "T", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645390.1:n.326T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768325" }, { "coordinates": [ { "allele": "G", "end": 270, "referenceAllele": "T", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645445.1:c.270T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768356" }, { "coordinates": [ { "allele": "G", "end": 358, "referenceAllele": "T", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645535.1:c.-2T>G" ], "proteinEffect": { "hgvs": "ENSP00000493984.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768410" }, { "coordinates": [ { "allele": "G", "end": 340, "referenceAllele": "T", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645579.1:n.340T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768441" }, { "coordinates": [ { "allele": "G", "end": 298, "referenceAllele": "T", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645725.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000495480.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000495480.1:p.Leu91_Pro455delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768519" }, { "coordinates": [ { "allele": "G", "end": 241, "referenceAllele": "T", "start": 240 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000645920.1:c.*79T>G" ], "proteinEffect": { "hgvs": "ENSP00000494490.1:n.*79T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768609" }, { "coordinates": [ { "allele": "G", "end": 343, "referenceAllele": "T", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646098.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000495591.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000495591.1:p.Leu91_Pro429delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" 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"ENSP00000495199.1:p.Leu91_Ile446delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGluIleIlePheSerIleThrAlaPheValAsnLeuArgArgPheSerPheAspAsnPheSerLysIleTer" 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"referenceAllele": "T", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646466.1:c.*202T>G" ], "proteinEffect": { "hgvs": "ENSP00000493511.1:n.*202T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768891" }, { "coordinates": [ { "allele": "G", "end": 422, "referenceAllele": "T", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646489.1:c.380T>G" ], "proteinEffect": { "hgvs": "ENSP00000496268.1:p.Leu127Ter", "hgvsWellDefined": "ENSP00000496268.1:p.Leu127_Pro473delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768903" }, { "coordinates": [ { "allele": "G", "end": 409, "referenceAllele": "T", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646559.1:c.*202T>G" ], "proteinEffect": { "hgvs": "ENSP00000495838.1:n.*202T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768938" }, { "coordinates": [ { "allele": "G", "end": 422, "referenceAllele": "T", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646600.1:c.*202T>G" ], "proteinEffect": { "hgvs": "ENSP00000494041.1:n.*202T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768965" }, { "coordinates": [ { "allele": "G", "end": 278, "referenceAllele": "T", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ 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"ENSP00000495209.1:p.Leu91_Cys426delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769112" }, { "coordinates": [ { "allele": "G", "end": 305, "referenceAllele": "T", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646910.1:n.305T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS769133" }, { "coordinates": [ { "allele": "G", "end": 300, "referenceAllele": "T", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000646943.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000494666.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000494666.1:p.Leu91_Leu485delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769152" }, { "coordinates": [ { "allele": "G", "end": 434, "referenceAllele": "T", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647018.1:c.380T>G" ], "proteinEffect": { "hgvs": "ENSP00000493722.1:p.Leu127Ter", "hgvsWellDefined": "ENSP00000493722.1:p.Leu127_Gln454delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769193" }, { "coordinates": [ { "allele": "G", "end": 96, "referenceAllele": "T", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647048.1:c.96T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS769208" }, { "coordinates": [ { "allele": "G", "end": 398, "referenceAllele": "T", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647096.1:c.380T>G" ], "proteinEffect": { "hgvs": "ENSP00000494192.1:p.Leu127Ter", "hgvsWellDefined": "ENSP00000494192.1:p.Leu127_Pro500delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgPheLysAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769230" }, { "coordinates": [ { "allele": "G", "end": 167, "referenceAllele": "T", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647110.1:c.167T>G" ], "proteinEffect": { "hgvs": "ENSP00000494738.1:p.Leu56Ter", "hgvsWellDefined": "ENSP00000494738.1:p.Leu56_Leu453delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerGlyAspSerProAlaSerAlaSerArgValAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769238" }, { "coordinates": [ { "allele": "G", "end": 378, "referenceAllele": "T", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647334.1:c.378T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS769357" }, { "coordinates": [ { "allele": "G", "end": 300, "referenceAllele": "T", "start": 299 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000647351.1:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000494556.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000494556.1:p.Leu91_Leu487delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspGlyValLeuLeuSerSerProArgLeuGluCysAsnGlyThrIleSerAlaAsnCysAsnLeuArgLeuLeuGlySerAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769368" }, { "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "T", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000648936.2:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000497130.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000497130.1:p.Leu91_Pro437delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770269", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.272T>G" }, "RefSeq": { "hgvs": "NM_003919.3:c.272T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Leu91Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Leu91Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000265735.11:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000265735.6:p.Leu91Ter", "hgvsWellDefined": "ENSP00000265735.6:p.Leu91_Pro437delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS251813" }, { "coordinates": [ { "allele": "G", "end": 468, "referenceAllele": "T", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000415788.2:c.380T>G" ], "proteinEffect": { "hgvs": "ENSP00000405313.2:p.Leu127Ter", "hgvsWellDefined": "ENSP00000405313.2:p.Leu127_Cys471delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyGluCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS284151" }, { "coordinates": [ { "allele": "G", "end": 409, "referenceAllele": "T", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000425444.1:c.*202T>G" ], "proteinEffect": { "hgvs": "ENSP00000391892.1:n.*202T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS288762" }, { "coordinates": [ { "allele": "G", "end": 272, "referenceAllele": "T", "start": 271 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000428696.6:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000397536.2:p.Leu91Ter", "hgvsWellDefined": "ENSP00000397536.2:p.Leu91_Leu451delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290318" }, { "coordinates": [ { "allele": "G", "end": 217, "referenceAllele": "T", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000437425.6:c.149T>G" ], "proteinEffect": { "hgvs": "ENSP00000394061.2:p.Leu50Ter", "hgvsWellDefined": "ENSP00000394061.2:p.Leu50_Pro396delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS294460" }, { "coordinates": [ { "allele": "G", "end": 298, "referenceAllele": "T", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000445866.6:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000398930.2:p.Leu91Ter", "hgvsWellDefined": "ENSP00000398930.2:p.Leu91_Pro462delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298479" }, { "coordinates": [ { "allele": "G", "end": 340, "referenceAllele": "T", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000447873.5:c.272T>G" ], "proteinEffect": { "hgvs": "ENSP00000388734.1:p.Leu91Ter", "hgvsWellDefined": "ENSP00000388734.1:p.Leu91_Pro428delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS299469" }, { "coordinates": [ { "allele": "G", "end": 471, "referenceAllele": "T", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "ENST00000450385.5:c.*310T>G" ], "proteinEffect": { "hgvs": "ENSP00000398344.1:n.*310T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS300679" }, { "@id": "http://reg.genome.network/allele/PA2825536271", "coordinates": [ { "allele": "G", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.1:c.272T>G" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Leu91Ter", "hgvsWellDefined": "NP_001092870.1:p.Leu91_Leu451delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010734" }, { "@id": "http://reg.genome.network/allele/PA2825536649", "coordinates": [ { "allele": "G", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.1:c.272T>G" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Leu91Ter", "hgvsWellDefined": "NP_001092871.1:p.Leu91_Pro462delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010735" }, { "@id": "http://reg.genome.network/allele/PA2826864592", "coordinates": [ { "allele": "G", "end": 260, "referenceAllele": "T", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.1:c.149T>G" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Leu50Ter", "hgvsWellDefined": "NP_001288068.1:p.Leu50_Pro396delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025125" }, { "@id": "http://reg.genome.network/allele/PA2580298889", "coordinates": [ { "allele": "G", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.2:c.272T>G" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Leu91Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS029129" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250675.3:c.380T>G" ], "proteinEffect": { "hgvs": "XP_005250732.1:p.Leu127Ter", "hgvsWellDefined": "XP_005250732.1:p.Leu127_Pro473delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059257" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_005250677.3:c.380T>G" ], "proteinEffect": { "hgvs": "XP_005250734.1:p.Leu127Ter", "hgvsWellDefined": "XP_005250734.1:p.Leu127_Pro464delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS059258" }, { "coordinates": [ { "allele": "C", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 2995, "referenceAllele": "A", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 2996 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.1:c.2128-2996A>C" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-2996A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS083696" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.1:c.380T>G" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Leu127Ter", "hgvsWellDefined": "XP_011514965.1:p.Leu127_Phe503delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083863" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "T", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.1:c.380T>G" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Leu127Ter", "hgvsWellDefined": "XP_011514966.1:p.Leu127_Phe494delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083864" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "T", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.1:c.272T>G" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Leu91Ter", "hgvsWellDefined": "XP_011514967.1:p.Leu91_Phe467delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083865" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "T", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.1:c.272T>G" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Leu91Ter", "hgvsWellDefined": "XP_011514968.1:p.Leu91_Phe458delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083866" }, { "coordinates": [ { "allele": "G", "end": 472, "referenceAllele": "T", "start": 471 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.1:c.185T>G" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Leu62Ter", "hgvsWellDefined": "XP_011514969.1:p.Leu62_Phe438delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083867" }, { "coordinates": [ { "allele": "G", "end": 222, "referenceAllele": "T", "start": 221 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516668.1:c.149T>G" ], "proteinEffect": { "hgvs": "XP_011514970.1:p.Leu50Ter", "hgvsWellDefined": "XP_011514970.1:p.Leu50_Phe426delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS083868" }, { "coordinates": [ { "allele": "G", "end": 404, "referenceAllele": "T", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.1:c.-2T>G" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS083869" }, { "@id": "http://reg.genome.network/allele/PA2827382208", "coordinates": [ { "allele": "G", "end": 491, "referenceAllele": "T", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.1:c.380T>G" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Leu127Ter", "hgvsWellDefined": "NP_001333642.1:p.Leu127_Pro473delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517651" }, { "@id": "http://reg.genome.network/allele/PA2827382540", "coordinates": [ { "allele": "G", "end": 491, "referenceAllele": "T", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.1:c.380T>G" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Leu127Ter", "hgvsWellDefined": "NP_001333644.1:p.Leu127_Pro464delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517653" }, { "@id": "http://reg.genome.network/allele/PA2827382831", "coordinates": [ { "allele": "G", "end": 383, "referenceAllele": "T", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.1:c.272T>G" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Leu91Ter", "hgvsWellDefined": "NP_001333646.1:p.Leu91_Pro428delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517655" }, { "@id": "http://reg.genome.network/allele/PA2827383171", "coordinates": [ { "allele": "G", "end": 553, "referenceAllele": "T", "start": 552 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.1:c.185T>G" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Leu62Ter", "hgvsWellDefined": "NP_001333648.1:p.Leu62_Pro408delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517656" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "T", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.1:c.-2T>G" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS517657" }, { "@id": "http://reg.genome.network/allele/PA2828066114", "coordinates": [ { "allele": "G", "end": 559, "referenceAllele": "T", "start": 558 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.1:c.185T>G" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Leu62Ter", "hgvsWellDefined": "NP_001349736.1:p.Leu62_Pro399delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523075" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "T", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.1:c.-2T>G" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS523076" }, { "@id": "http://reg.genome.network/allele/PA2828066703", "coordinates": [ { "allele": "G", "end": 260, "referenceAllele": "T", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.1:c.149T>G" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Leu50Ter", "hgvsWellDefined": "NP_001349738.1:p.Leu50_Pro387delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523077" }, { "coordinates": [ { "allele": "C", "end": 2192, "endIntronDirection": "-", "endIntronOffset": 2995, "referenceAllele": "A", "start": 2192, "startIntronDirection": "-", "startIntronOffset": 2996 } ], "gene": "http://reg.genome.network/gene/GN016014", "geneNCBI_id": 64921, "geneSymbol": "CASD1", "hgvs": [ "XM_011516495.2:c.2128-2996A>C" ], "proteinEffect": { "hgvs": "XP_011514797.1:n.2128-2996A>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS544191" }, { "coordinates": [ { "allele": "G", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516663.2:c.380T>G" ], "proteinEffect": { "hgvs": "XP_011514965.1:p.Leu127Ter", "hgvsWellDefined": "XP_011514965.1:p.Leu127_Phe503delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544255" }, { "coordinates": [ { "allele": "G", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516664.2:c.380T>G" ], "proteinEffect": { "hgvs": "XP_011514966.1:p.Leu127Ter", "hgvsWellDefined": "XP_011514966.1:p.Leu127_Phe494delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544256" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "T", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516665.3:c.272T>G" ], "proteinEffect": { "hgvs": "XP_011514967.1:p.Leu91Ter", "hgvsWellDefined": "XP_011514967.1:p.Leu91_Phe467delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544257" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "T", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516666.3:c.272T>G" ], "proteinEffect": { "hgvs": "XP_011514968.1:p.Leu91Ter", "hgvsWellDefined": "XP_011514968.1:p.Leu91_Phe458delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544258" }, { "coordinates": [ { "allele": "G", "end": 498, "referenceAllele": "T", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516667.2:c.185T>G" ], "proteinEffect": { "hgvs": "XP_011514969.1:p.Leu62Ter", "hgvsWellDefined": "XP_011514969.1:p.Leu62_Phe438delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544259" }, { "coordinates": [ { "allele": "G", "end": 403, "referenceAllele": "T", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_011516669.3:c.-2T>G" ], "proteinEffect": { "hgvs": "XP_011514971.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS544260" }, { "coordinates": [ { "allele": "G", "end": 334, "referenceAllele": "T", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012763.1:c.185T>G" ], "proteinEffect": { "hgvs": "XP_016868252.1:p.Leu62Ter", "hgvsWellDefined": "XP_016868252.1:p.Leu62_Phe438delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566278" }, { "coordinates": [ { "allele": "G", "end": 417, "referenceAllele": "T", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_017012767.1:c.-2T>G" ], "proteinEffect": { "hgvs": "XP_016868256.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS566279" }, { "coordinates": [ { "allele": "G", "end": 212, "referenceAllele": "T", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446985.1:c.149T>G" ], "proteinEffect": { "hgvs": "XP_024302753.1:p.Leu50Ter", "hgvsWellDefined": "XP_024302753.1:p.Leu50_Phe426delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580613" }, { "coordinates": [ { "allele": "G", "end": 217, "referenceAllele": "T", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "XM_024446986.1:c.149T>G" ], "proteinEffect": { "hgvs": "XP_024302754.1:p.Leu50Ter", "hgvsWellDefined": "XP_024302754.1:p.Leu50_Phe417delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluAlaSerIleMetLysLeuPheIleArgPheGlnLeuGlnAspValTyrGlnAsnPheSerLeuGlnPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS580614" }, { "@id": "http://reg.genome.network/allele/PA2825536271", "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "T", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099400.2:c.272T>G" ], "proteinEffect": { "hgvs": "NP_001092870.1:p.Leu91Ter", "hgvsWellDefined": "NP_001092870.1:p.Leu91_Leu451delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyAspPheArgLeuThrThrPheGlnArgPheGluValAsnGlyIleProGluGluArgLysLeuThrGluAlaMetAsnLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676500" }, { "@id": "http://reg.genome.network/allele/PA2825536649", "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "T", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001099401.2:c.272T>G" ], "proteinEffect": { "hgvs": "NP_001092871.1:p.Leu91Ter", "hgvsWellDefined": "NP_001092871.1:p.Leu91_Pro462delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnTrpSerPheAlaProValAlaGlnAlaGlyValGlnTrpSerAspLeuGlySerLeuGlnProProProProArgAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676501" }, { "@id": "http://reg.genome.network/allele/PA2826864592", "coordinates": [ { "allele": "G", "end": 184, "referenceAllele": "T", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001301139.2:c.149T>G" ], "proteinEffect": { "hgvs": "NP_001288068.1:p.Leu50Ter", "hgvsWellDefined": "NP_001288068.1:p.Leu50_Pro396delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683363" }, { "@id": "http://reg.genome.network/allele/PA2827382208", "coordinates": [ { "allele": "G", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346713.2:c.380T>G" ], "proteinEffect": { "hgvs": "NP_001333642.1:p.Leu127Ter", "hgvsWellDefined": "NP_001333642.1:p.Leu127_Pro473delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687417" }, { "@id": "http://reg.genome.network/allele/PA2827382540", "coordinates": [ { "allele": "G", "end": 415, "referenceAllele": "T", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346715.2:c.380T>G" ], "proteinEffect": { "hgvs": "NP_001333644.1:p.Leu127Ter", "hgvsWellDefined": "NP_001333644.1:p.Leu127_Pro464delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687418" }, { "@id": "http://reg.genome.network/allele/PA2827382831", "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "T", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346717.2:c.272T>G" ], "proteinEffect": { "hgvs": "NP_001333646.1:p.Leu91Ter", "hgvsWellDefined": "NP_001333646.1:p.Leu91_Pro428delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687419" }, { "@id": "http://reg.genome.network/allele/PA2827383171", "coordinates": [ { "allele": "G", "end": 477, "referenceAllele": "T", "start": 476 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346719.2:c.185T>G" ], "proteinEffect": { "hgvs": "NP_001333648.1:p.Leu62Ter", "hgvsWellDefined": "NP_001333648.1:p.Leu62_Pro408delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687420" }, { "coordinates": [ { "allele": "G", "end": 369, "referenceAllele": "T", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001346720.2:c.-2T>G" ], "proteinEffect": { "hgvs": "NP_001333649.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS687421" }, { "@id": "http://reg.genome.network/allele/PA2828066114", "coordinates": [ { "allele": "G", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362807.2:c.185T>G" ], "proteinEffect": { "hgvs": "NP_001349736.1:p.Leu62Ter", "hgvsWellDefined": "NP_001349736.1:p.Leu62_Pro399delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690548" }, { "coordinates": [ { "allele": "G", "end": 369, "referenceAllele": "T", "start": 368 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362808.2:c.-2T>G" ], "proteinEffect": { "hgvs": "NP_001349737.1:n.-2T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS690549" }, { "@id": "http://reg.genome.network/allele/PA2828066703", "coordinates": [ { "allele": "G", "end": 184, "referenceAllele": "T", "start": 183 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_001362809.2:c.149T>G" ], "proteinEffect": { "hgvs": "NP_001349738.1:p.Leu50Ter", "hgvsWellDefined": "NP_001349738.1:p.Leu50_Pro387delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690550" }, { "@id": "http://reg.genome.network/allele/PA2580298889", "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "T", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN010808", "geneNCBI_id": 8910, "geneSymbol": "SGCE", "hgvs": [ "NM_003919.3:c.272T>G" ], "proteinEffect": { "hgvs": "NP_003910.1:p.Leu91Ter", "hgvsWellDefined": "NP_003910.1:p.Leu91_Pro437delinsMetGlyTyrProAspArgProGlyTrpLeuArgTyrIleGlnArgThrProTyrSerAspGlyValLeuTyrGlySerProThrAlaGluAsnValGlyLysProThrIleIleGluIleThrAlaTyrAsnArgArgThrPheGluThrAlaArgHisAsnLeuIleIleAsnIleMetSerAlaGluAspPheProLeuProTyrGlnAlaGluPhePheIleLysAsnMetAsnValGluGluMetLeuAlaSerGluValLeuGlyAspPheLeuGlyAlaValLysAsnValTrpGlnProGluArgLeuAsnAlaIleAsnIleThrSerAlaLeuAspArgGlyGlyArgValProLeuProIleAsnAspLeuLysGluGlyValTyrValMetValGlyAlaAspValProPheSerSerCysLeuArgGluValGluAsnProGlnAsnGlnLeuArgCysSerGlnGluMetGluProValIleThrCysAspLysLysPheArgThrGlnPheTyrIleAspTrpCysLysIleSerLeuValAspLysThrLysGlnValSerThrTyrGlnGluValIleArgGlyGluGlyIleLeuProAspGlyGlyGluTyrLysProProSerAspSerLeuLysSerArgAspTyrTyrThrAspPheLeuIleThrLeuAlaValProSerAlaValAlaLeuValLeuPheLeuIleLeuAlaTyrIleMetCysCysArgArgGluGlyValGluLysArgAsnMetGlnThrProAspIleGlnLeuValHisHisSerAlaIleGlnLysSerThrLysGluLeuArgAspMetSerLysAsnArgGluIleAlaTrpProLeuSerThrLeuProValPheHisProValThrGlyGluIleIleProProLeuHisThrAspAsnTyrAspSerThrAsnMetProLeuMetGlnThrGlnGlnAsnLeuProHisGlnThrGlnIleProGlnGlnGlnThrThrGlyLysTrpTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695983", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000648936.2:c.272T>G" }, "RefSeq": { "hgvs": "NM_003919.3:c.272T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000497130.1:p.Leu91Ter" }, "RefSeq": { "hgvs": "NP_003910.1:p.Leu91Ter" } } } } ], "type": "nucleotide" }